Variant #0000543194 (NC_000011.9:g.17483297G>A, ABCC8(NM_000352.3):c.655C>T)

Chromosome 11
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.17483297G>A
DNA change (hg38) g.17461750G>A
Published as ABCC8(NM_001287174.1):c.655C>T (p.Q219*)
ISCN -
DB-ID ABCC8_000483
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ABCC8 NM_000352.3 +/. - c.655C>T r.(?) p.(Gln219Ter)